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MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
J Inherit Metab Dis. 2023 Mar;46(2):313-325. doi: 10.1002/jimd.12588. Epub 2023 Feb 1.
J Inherit Metab Dis. 2023.
PMID: 36651519
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA.
Engelke UF, et al. Among authors: zijlstra fs.
Biochim Biophys Acta. 2010 Nov;1802(11):1028-35. doi: 10.1016/j.bbadis.2010.06.007. Epub 2010 Jun 18.
Biochim Biophys Acta. 2010.
PMID: 20600873
Free PMC article.
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Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
Wamelink MM, Struys EA, Jansen EE, Levtchenko EN, Zijlstra FS, Engelke U, Blom HJ, Jakobs C, Wevers RA.
Wamelink MM, et al. Among authors: zijlstra fs.
Hum Mutat. 2008 Apr;29(4):532-6. doi: 10.1002/humu.20685.
Hum Mutat. 2008.
PMID: 18186520
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